Genetics Flashcards
(35 cards)
differentiation def
specialization of (stem) cells
human genome project
1990-2003, effort to map the entire human genome > found that all humans have virtually the same genes but unique allele combinations
single-gene inheritance
traits influenced by only one pair of genes
traits that are polygenic
alcoholism (genes create addictive pull), nearsightedness, schizophrenia
factors causing genetic disorders
“advanced maternal age” (above 35), inherited disorders, spontaneous mutation, environment
- approx 60% of abortions in 1st trimester caused by chromosomal abnormalities
sex linked chromosomal disorders
red-green color blindness (pinched X) - mental disability, physical abnormalities, emotional problems
Turner syndrome (XO) - no menstrual cycle, no 2ndary sex characteristics
Klinefelter’s Syndrome (XXY) - sterile, female body characteristics
parental imprinting
same allele affects embryos differently depending on whether it comes from mom or dad
parental imprinting example
chromosome 15
dad - Prader Willi = overweight, slow moving, stubborn
mom - Angelman = underweight, hyperactive, overly happy
dominant disorders probability and examples
rare because people rarely live long enough to reproduce
ex:
Hungtington’s chorea & Marfan syndrome
recessive disorder examples
sickle cell anemia, CF, Tay-Sachs, Phenyletonurio (PKU)
why are recessive disorders passed on
sometimes because the genes are protective
ex: sickle cell anemia protects against malaria
triple/quad screen test
15-20 wks, maternal blood test for chromosomal abnormalities, low risk but cannot diagnose
ultrasound
low/no risk, helps estimate age of baby and gender, can identify physical abnormalities
chorionic villus sampling (CVS)
9/10th wk, samples hair-like material surrounding embryo
amniocentesis
16th wk, samples fetal cells from amniotic fluid
genetic counseling
diagnostic and preventative for higher risk parents that have family history etc
gene therapy
modifies a person’s genes to treat or cure disease
methods: 1. replacing/inactivating disease causing gene
- introducing a new/modified gene to help treat a disease
In Vitro Fertilization (IVF)
adding sperm to ova that have been surgically removed from woman’s ovary and then implanting fertilized egg into woman’s uterus; no evidence of disadvantage for babies; some legal restrictions
who is IVF used by
couples w/high genetic risk, gay couples, those who struggle with infertility, older women, those who want child without partner
monozygotic twins
one zygote that divides, same genotype but slight variation in pheno due to environ., change can occur right after conception due to mutations bc of separate amniotic sacs/cords
dizygotic twins
2 ova fertilized by 2 separate sperm, incidence is genetic, siblings born at the same time, older women more likely to double ovulate
methods of studying individual differences
comparing similarity to degree of relatedness
behavioral genetics
establishes the level of heritability - measure of extent to which genes determine a particular behavior or characteristic
concordance rate
% of time both members show the same characteristic, higher = greater genetic influence